Proband information


Proband id 396
Systematic Name
(NM_004992.3:)		 c.[880C>T(;)1430G>C]
Protein name
(NP_004983)		 p.[Arg294*(;)Ser477Thr]
Alternate systematic Name
(NM_001110792.1:)		 c.[916C>T;1466G>C]
Alternate Protein name
(NP_001104262)		 p.?
Genomic nomenclature
(ChrX(GRCh37))(NC_000023.10:)		 g.[153296399G>A;153295849C>G]
Mutation type Nonsense
Domain TRD
Pathogenicity Mutation associated with disease
Evidence of Pathogenicity 80 chromosomes tested and not found in 0 chromosomes
Detection direct
Extent Exons 2-4
Source of DNA blood
Carrier Y
Carrier result Mother is not carrier, Sister is carrier of 1430G>C polymorphism, Father is carrier of 1430G>C polymorphism, other sister is not carrier of 880C>T mutation and was not screened for 1430G>C polymorphism
Other mutations N
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial Sporadic
Phenotype-class Rett syndrome-Atypical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Gender Carrier result Phenotype Proband id Reference
1 c.[880C>T(;)1430G>C] p.[Arg294*(;)Ser477Thr] Female Mother is not carrier, Sister is carrier of 1430G>C polymorphism, Father is carrier of 1430G>C polymorphism, other sister is not carrier of 880C>T mutation and was not screened for 1430G>C polymorphism Rett syndrome-Atypical 396 :::